The clinical characteristics, electroneurophysiology and pathology of hereditary neuropathy with liability to pressure palsies: two cases of one pedigree
- VernacularTitle:一家系2例遗传性压迫易感性神经病报道
- Author:
Xusheng HUANG
;
Fang CUI
;
Zhaohu CHEN
- Publication Type:Journal Article
- Keywords:
peripheral nervous system diseases;
hereditary diseases;
neural conduction
- From:
Medical Journal of Chinese People's Liberation Army
1981;0(06):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To elucidate the clinical, electrophysiological, neuropathological features of two cases of hereditary neuropathy with liability to pressure palsies (HNPP) in one pedigree, and to review the literature of HNPP, so as to promote the understanding and diagnostic acuity of the disease. Methods Detailed electromyogram, motor and sensory conduction velocity, and distal motor latency were measured for clinically affected and unaffected nerves in the two patients. Sural nerve biopsy was performed for case one and the specimen was observed under light microscope and elcctronmicroscope. The cases reported in China up to the present were collected. Results Case one was an 18 year old male with a 9 year history of recurrent weakness and numbness of limbs precipitated by compression or stretch. Case two was his father. Although he had not experienced clinical episode of limb weakness and numbness, physiological examination revealed signs of peripheral neuropathy. Eletrophysiological study demonstrated diffuse peripheral nerve damage with decreased nerve conduction velocity, delayed distal motor latency, especially a decrease in motor conduction velocity at common entrapment sites, including clinical unaffected nerves. Sural nerve biopsy showed that myelin sheath of most myelinated fibers with normal axons was thickened. Some thickened myelin sheath was seen to invaginate into the axon. No onion bulb was found and unmyelinated fibers were relatively normal. Only 9 cases of HNPP were reported in China, but no DNA analysis was performed for any of them. Conclusions HNPP is a rare disease with autosomal dominant inheritance. Nerve conduction study is an important diagnostic method for screening. Its definite diagnosis relies on the typical pathological findings in nerve biopsy specimen. Sural nerve biopsy could be avoided for diagnosis if the family history were positive and nerve conduction study should show diffuse peripheral nerve damage
